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MRPL4 mitochondrial ribosomal protein L4 [ Homo sapiens (human) ]

Gene ID: 51073, updated on 5-Mar-2024

Summary

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Official Symbol
MRPL4provided by HGNC
Official Full Name
mitochondrial ribosomal protein L4provided by HGNC
Primary source
HGNC:HGNC:14276
See related
Ensembl:ENSG00000105364 MIM:611823; AllianceGenome:HGNC:14276
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
L4mt; uL4m; CGI-28
Summary
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified alternatively spliced variants that encode different protein isoforms. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in kidney (RPKM 9.6), fat (RPKM 9.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
19p13.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (10251951..10260055)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (10378061..10386165)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (10362627..10370731)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 10 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:10330242-10330742 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:10330743-10331243 Neighboring gene sphingosine-1-phosphate receptor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13944 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10340651-10341365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13946 Neighboring gene microRNA 4322 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13947 Neighboring gene Sharpr-MPRA regulatory region 3154 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10060 Neighboring gene H3K27ac hESC enhancers GRCh37_chr19:10362245-10362818 and GRCh37_chr19:10362819-10363392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13951 Neighboring gene lncRNA inflammatory and mucous response associated, antisense to ICAM1 Neighboring gene Sharpr-MPRA regulatory region 14536 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13953 Neighboring gene intercellular adhesion molecule 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13954 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10397303-10398272 Neighboring gene ICAM4 antisense RNA 1 Neighboring gene intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The association between polymorphisms in the MRPL4 and TNF-α genes and susceptibility to allergic rhinitis. Wei X, et al. PLoS One, 2013. PMID 23472126, Free PMC Article
  2. MIEF1 Microprotein Regulates Mitochondrial Translation. Rathore A, et al. Biochemistry, 2018 Sep 25. PMID 30215512, Free PMC Article
  3. Cytosolic Iron-Sulfur Assembly Is Evolutionarily Tuned by a Cancer-Amplified Ubiquitin Ligase. Weon JL, et al. Mol Cell, 2018 Jan 4. PMID 29225034
  4. GRSF1 regulates RNA processing in mitochondrial RNA granules. Jourdain AA, et al. Cell Metab, 2013 Mar 5. PMID 23473034, Free PMC Article
  5. p32/gC1qR is indispensable for fetal development and mitochondrial translation: importance of its RNA-binding ability. Yagi M, et al. Nucleic Acids Res, 2012 Oct. PMID 22904065, Free PMC Article

See all (87) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. there is a strong association between allergic rhinitis risk and polymorphisms of MRPL4 and TNF-alpha genes in the Han Chinese population
    Title: The association between polymorphisms in the MRPL4 and TNF-α genes and susceptibility to allergic rhinitis.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC2681, MGC16367

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables structural constituent of ribosome IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in mitochondrial translation NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrial inner membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
part_of mitochondrial large ribosomal subunit IDA
Inferred from Direct Assay
more info
 PubMed 
part_of mitochondrial large ribosomal subunit NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
large ribosomal subunit protein uL4m
Names
39S ribosomal protein L4, mitochondrial
MRP-L4
mitochondrial large ribosomal subunit protein uL4m
NP_001398078.1
NP_057040.2
NP_666499.1
NP_666500.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001411149.1 → NP_001398078.1  large ribosomal subunit protein uL4m isoform c

    Status: REVIEWED

    Source sequence(s)
    AC011511
    Consensus CDS
    CCDS92511.1
    UniProtKB/TrEMBL
    X6RAY8
    Related
    ENSP00000377334.2, ENST00000393733.6

  2. NM_015956.3 → NP_057040.2  large ribosomal subunit protein uL4m isoform a

    See identical proteins and their annotated locations for NP_057040.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the predominant transcript and it encodes the same isoform (a) as variant 2.
    Source sequence(s)
    AC011511, BC009858, BG325905
    Consensus CDS
    CCDS12230.1
    UniProtKB/Swiss-Prot
    A6NNV7, Q9BW07, Q9BYD3, Q9H4N2, Q9Y317
    UniProtKB/TrEMBL
    K7ES61
    Related
    ENSP00000253099.5, ENST00000253099.11
    Conserved Domains (1) summary
    pfam00573
    Location:81 → 272
    Ribosomal_L4; Ribosomal protein L4/L1 family

  3. NM_146387.2 → NP_666499.1  large ribosomal subunit protein uL4m isoform a

    See identical proteins and their annotated locations for NP_666499.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AC011511, BC009858, BG758801
    Consensus CDS
    CCDS12230.1
    UniProtKB/Swiss-Prot
    A6NNV7, Q9BW07, Q9BYD3, Q9H4N2, Q9Y317
    UniProtKB/TrEMBL
    K7ES61
    Related
    ENSP00000306902.5, ENST00000307422.9
    Conserved Domains (1) summary
    pfam00573
    Location:81 → 272
    Ribosomal_L4; Ribosomal protein L4/L1 family

  4. NM_146388.2 → NP_666500.1  large ribosomal subunit protein uL4m isoform b

    See identical proteins and their annotated locations for NP_666500.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, compared to variant 1, that results in a frameshift. It encodes an isoform (b) which has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC011511
    Consensus CDS
    CCDS42499.1
    UniProtKB/TrEMBL
    K7ES61
    Related
    ENSP00000465143.1, ENST00000590669.5
    Conserved Domains (1) summary
    pfam00573
    Location:81 → 247
    Ribosomal_L4; Ribosomal protein L4/L1 family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    10251951..10260055
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    10378061..10386165
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BYD3.1 GenPept UniProtKB/Swiss-Prot:Q9BYD3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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